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What
Wildervanck Syndrome is a rare inherited genetic disorder that is characterized by deafness, skeletal malformations and eye retraction. It is also known as cervico-oculo-acoustic syndrome.
Who
Wildervanck syndrome is seen almost exclusively in females. It may be responsible for at least 1% of deafness among females. Since the condition is mainly seen in females, it is thought to be lethal in males (if a male fetus is conceived with this syndrome a spontaneous abortion will likely occur).
Signs and Symptoms
The three main features of Wildervanck syndrome are deafness, skeletal malformations and eye retraction. The deafness can occur in one or both ears, and can be both sensorineural (i.e. faulty connections from the inner ear to the brain) or conductive (i.e. problems with the transmission of sound from the outer ear to the inner ear). The skeletal malformation is known as the Klippel-Feil anomaly, and consists of abnormally joined bones in the neck, resulting in a limited range of head motion. Eye retraction, also known as Duane syndrome, is a condition where the eyeball is pulled back into the eye cavity, resulting in limited range of eye motion (especially horizontal) as well as deviation of one eye with respect to the other (strabismus). Children with Wildervanck syndrome may also have a variety of other abnormalities, including spina bifida cervicalis (partial or complete exposure of the spinal cord at birth); short neck with excess skin; facial asymmetry, sometimes facial paralysis; swelling of the optic disk on the retina (pseudo-papilledema); twisting of the neck that moves the head into an abnormal position (torticollis); abnormal curvature of the spine (scoliosis); and mental retardation.
Possible Causes
Wildervanck syndrome is a hereditary condition that occurs sporadically (randomly) for unknown reasons. It is likely that many genes (polygenic inheritance) are involved, and it is possible that there is an interaction with environmental factors. More research is needed on this topic to better understand the origins of the disease.
Diagnosis
There is no specific blood or imaging test to diagnose Wildervanck syndrome. The diagnosis is based on the presence of the physical signs noted above. To determine all of these physical findings, patients may have to have Computerized Tomography (CT) or Magnetic Resonance Imaging (MRI) to evaluate their bones and eyes. They will also need comprehensive hearing tests. If other abnormalities are present in other organs, additional specialized tests may be necessary.
Treatment
The treatment of Wildervanck syndrome requires close work with other specialties, including otolaryngology, orthopedics, and ophthalmology. Surgery may be useful in helping the hearing impairment with the implantation of devices to improve sound conduction. Hearing aids may improve hearing as well. The ability to hear is important for cognitive development and language acquisition. Children with this syndrome can also benefit from learning sign language. Orthopedic surgery may be needed to correct bone malformations around the spinal cord. Children need close follow-up with ophthalmologists for their eye deviation to prevent the development of blindness in the affected eye. Eye surgery may also be considered depending on the degree of eye deviation. Finally, children with this disease also benefit from physical therapy and may require special education to achieve their full potential.
Prognosis
The majority of symptoms in this disease are functionally restricting depending on their degree of severity. Although mental retardation can occur, many patients with Wildervanck syndrome are cognitively normal. With the correct treatment and supportive services, these children can grow up to lead healthy, productive adult lives.
Connect with other parents
In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.Weblinks
Connect with other parents
In the spirit of community and support, Madison's Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.
Weblinks
Alexander Graham Bell Association for the Deaf: http://www.agbell.org/DesktopDefault.aspx Website provides information about hearing loss, the technologies available for aiding the hearing impaired, and advocacy. There also is a parent section.
American Society of Deaf Children: http://www.deafchildren.org/ Website has a Parents Connected service. First year membership is free to parents of newly identified deaf or hard of hearing children. There also are services for grandparents and military families.
Klippel-Feil Syndrome: http://www.cafamily.org.uk/Direct/k20.html Clear and concise explanation of KFS.
Duane Syndrome : http://www.childrenshospital.org/cfapps/research/data_admin/Site339/mainpageS339P18sublevel15.html A more scientifically minded website with instructions on how to get involved with research on Duane Syndrome
National Technical Assistance Consortium for Children and Young Adults who are Deaf-Blind http://www.tr.wou.edu/ntac/ Site has links to services available in each State.
Deaf Culture Online : http://www.deaf-culture-online.com/ A link with information about the basics of Deaf Culture and sign language.
References and Sources
http://children.webmd.com/wildervanck-syndrome
OMIM: Wildervanck Syndrome http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=314600 Gupte G, Mahajan P, Shreenivas VK, Kher A, Bharucha BA (1992) Wildervanck syndrome (cervico-oculo-acoustic syndrome).
J Postgrad Med 38:180-2 http://www.jpgmonline.com/article.asp?issn=0022-3859;year=1992;volume=38;issue=4;spage=180;epage=2;aulast=Gupte J.G. Pappas, E. Rimar, V.B. Penchaszadeh. Possible mother-daughter transmission of Wildervanck syndrome.
http://genetics.faseb.org/genetics/ashg99/f1901.htm